Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro ‐oculo‐facio‐skeletal syndrome

ConclusionThe co ‐occurrence of clinical and overlapping genetic heterogeneous entities should be taken into consideration for better molecular and genetic counseling.

Source: Molecular Genetics & Genomic Medicine - May 22, 2019 Category: Genetics & Stem Cells Authors: Abir Ben Haj Ali, Ahlem Amouri, Marwa Sayeb, Saloua Makni, Wajih Hammami, Chokri Naouali, Hamza Dallali, Lilia Romdhane, Anu Bashamboo, Kenneth McElreavey, Sonia Abdelhak, Olfa Messaoud Tags: ORIGINAL ARTICLE Source Type: research